Genetics of variation in human color vision and the retinal cone mosaic

Current Opinion in Genetics & Development
Samir S Deeb

Abstract

Variation in human color vision is mainly caused by one common polymorphism (Ser180Ala) in the L pigment, and to the frequent presence of hybrid genes that encode pigments with various spectral properties. Both recombination and gene conversion between the highly homologous L and M pigment genes have generated wide variation in genotype and color vision phenotype. The S, M and L cones are distributed randomly in the central retina. Unlike S cones, M and L cones vary widely in number within the central retina. Determining the number of the three classes of cone and their special distribution in the living retina has significantly advanced the ability to correlate the cone mosaic in normal and color-defective subjects with the color vision phenotype. The transcription factors NR2E3, TRbeta2 and RXRgamma play crucial roles in establishment of the retinal cone mosaic during eye development.

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Citations

Jul 22, 2010·Nature Reviews. Neuroscience·Anand SwaroopDouglas Forrest
Jan 12, 2010·Molecular Biology and Evolution·Atsushi MatsuiYoshihito Niimura
Oct 25, 2011·BMC Evolutionary Biology·Tomohide HiwatashiShoji Kawamura
Aug 23, 2012·BMC Genomics·Tsviya OlenderDoron Lancet
Apr 10, 2012·Trends in Genetics : TIG·Rebecca C IskowCharles Lee
Apr 14, 2012·Animal Genetics·A ClopM Amills
Dec 25, 2012·Vision Research·M V DanilovaJ D Mollon
Jul 23, 2013·Journal of Molecular Biology·Rajini R Haraksingh, Michael P Snyder
Apr 4, 2014·Journal of the Optical Society of America. A, Optics, Image Science, and Vision·A J Lawrance-OwenJ D Mollon
Sep 5, 2007·Nature Genetics·Gregory M CooperEvan E Eichler
Apr 4, 2014·Journal of the Optical Society of America. A, Optics, Image Science, and Vision·Elise W Dees, Rigmor C Baraas
Dec 7, 2018·Eye·Serdar OzatesPelin Yilmazbas
Mar 23, 2021·Frontiers in Cell and Developmental Biology·Laura Sánchez-BellverGemma Marfany

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